Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10[2] (not SOX10).
[3] It was characterized in 1990,[4] after being seen in two siblings from Yemen who presented with a "hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation.
"[1] Some sources affirm SOX10 involvement.
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